UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CCC9
HGNC Symbol:SLC12A8
HGNC Description:solute carrier family 12, member 8
HGNC ID:15595
Superfamily:SLC
Chromosome:Chr.3(-): 124801480-124931609 GRCh37
Location:3q21.2
OMIM:611316
OMIM Phenotype:None
Accessions:AA331231,AF390442,AK131070,BC063528,BG149722,BX538
Nucleotide RefSeq:NM_024628
Protein RefSeq:NP_078904
Entrez:84561
Ensembl:ENSG00000221955
Isoforms:3
Evidence:Tissue Distribution Evidence: Ubiquitous - Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub).
Tissues:Ubiquitous
Type:protein-coding
Sets:0
PharmGKB ID:PA37991
HPRD ID:11563
Substrates:No data
Trivial Names:CCC9
Transcripts:NM_024628.5 [Chr.3(-): 124801480-124931609 GRCh37]
NM_001195483.1 [Chr.3(-): 124801480-124930243 GRCh37]
XM_005247835.1 [Chr.3(-): 124801488-124844823 GRCh37]
ENST00000314584 [Chr.3(-): 124802734-124930243 GRCh37]
ENST00000393469 [Chr.3(-): 124801482-124930243 GRCh37]
ENST00000423114 [Chr.3(-): 124801482-124998021 GRCh37]
ENST00000430155 [Chr.3(-): 124801480-124839698 GRCh37]
ENST00000461616 [Chr.3(-): 124806900-124826421 GRCh37]
ENST00000462437 [Chr.3(-): 124896775-124911539 GRCh37]
ENST00000465475 [Chr.3(-): 124801987-124842443 GRCh37]
ENST00000465777 [Chr.3(-): 124826789-124839784 GRCh37]
ENST00000469902 [Chr.3(-): 124802001-124931609 GRCh37]
ENST00000473262 [Chr.3(-): 124801803-124909369 GRCh37]
ENST00000479231 [Chr.3(-): 124826725-124829562 GRCh37]
ENST00000479352 [Chr.3(-): 124802494-124844823 GRCh37]
ENST00000479826 [Chr.3(-): 124829116-124909294 GRCh37]
ENST00000481760 [Chr.3(-): 124925512-124931708 GRCh37]
ENST00000483944 [Chr.3(-): 124802655-124842450 GRCh37]
ENST00000485849 [Chr.3(-): 124826913-124873909 GRCh37]
ENST00000485954 [Chr.3(-): 124826689-124837988 GRCh37]
ENST00000495105 [Chr.3(-): 124826889-124870059 GRCh37]
Annotation History:View Events (12)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC12A8.

Variant Data

View all PMT variants for SLC12A8 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.